ClinVar

NM_170707.4(LMNA):c.1415A>C (p.Gln472Pro)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136955 (on Assembly GRCh38)
• Chr1: 156106746 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1415A>C (p.Gln472Pro)

HGVS:

• NC_000001.11:g.156136955A>C
• NG_008692.2:g.59383A>C
• NM_001257374.3:c.1079A>C
• NM_001282624.2:c.1172A>C
• NM_001282625.2:c.1415A>C
• NM_001282626.2:c.1415A>C
• NM_005572.4:c.1415A>C
• NM_170707.4:c.1415A>CMANE SELECT
• NM_170708.4:c.1415A>C
• NP_001244303.1:p.Gln360Pro
• NP_001269553.1:p.Gln391Pro
• NP_001269554.1:p.Gln472Pro
• NP_001269555.1:p.Gln472Pro
• NP_005563.1:p.Gln472Pro
• NP_733821.1:p.Gln472Pro
• NP_733822.1:p.Gln472Pro
• LRG_254:g.59383A>C
• NC_000001.10:g.156106746A>C

This HGVS expression did not pass validation

Protein change:

Q360P

Links:

dbSNP: rs886042754

NCBI 1000 Genomes Browser:

rs886042754

Molecular consequence:

• NM_001257374.3:c.1079A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282624.2:c.1172A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.1415A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.1415A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.1415A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.1415A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.1415A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1